Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.

Abstract:

:Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been associated with different clinical phenotypes including Silver syndrome/spastic paraplegia 17, distal hereditary motor neuropathy type V, and Charcot-Marie-Tooth disease type 2 (CMT2) with predominant hand involvement. We studied an Italian family with a CMT2 phenotype with pyramidal signs that had subclinical sensory involvement on sural nerve biopsy. Direct sequencing analysis of the BSCL2 gene in the three affected siblings revealed an S90L mutation. This report confirms the variability of clinical phenotypes associated with a BSCL2 Ser90Leu mutation and describes the first Italian family with this mutation.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Luigetti M,Fabrizi GM,Madia F,Ferrarini M,Conte A,Delgrande A,Tonali PA,Sabatelli M

doi

10.1002/mus.21734

subject

Has Abstract

pub_date

2010-09-01 00:00:00

pages

448-51

issue

3

eissn

0148-639X

issn

1097-4598

journal_volume

42

pub_type

杂志文章
  • Pain in patients with myotonic dystrophy type 2: a postal survey in Finland.

    abstract:INTRODUCTION:Widespread musculoskeletal pain is a well-known symptom of myotonic dystrophy type 2 (DM2), but so far it has been addressed in only a few studies. METHODS:A postal survey for all traceable DM2 patients (n = 132) was conducted. A specific questionnaire, and severity and interference subscales of the Brief...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.22249

    authors: Suokas KI,Haanpää M,Kautiainen H,Udd B,Hietaharju AJ

    更新日期:2012-01-01 00:00:00

  • Characterization of skeletal muscle effects associated with daptomycin in rats.

    abstract::Daptomycin is a lipopeptide antibiotic with strong bactericidal effects against Gram-positive bacteria and minor side effects on skeletal muscles. The type and magnitude of the early effect of daptomycin on skeletal muscles of rats was quantified by histopathology, examination of contractile properties, Evans Blue Dye...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21691

    authors: Kostrominova TY,Hassett CA,Rader EP,Davis C,Larkin LM,Coleman S,Oleson FB,Faulkner JA

    更新日期:2010-09-01 00:00:00

  • Hereditary neuropathy and vocal cord paralysis in a man with childhood diphtheria.

    abstract::We present the case of a 37-year-old Afghani man with a history of childhood diphtheria, who was diagnosed with bilateral vocal cord paralysis at age 15 years. At about this time he developed progressive muscular wasting and distally predominant weakness, and subsequently developed respiratory insufficiency, necessita...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/(sici)1097-4598(200001)23:1<132::aid-mus21

    authors: Reichler BD,Scelsa SN,Simpson DM

    更新日期:2000-01-01 00:00:00

  • Effect of caffeine and high potassium on normal and dystrophic mouse EDL muscles at various developmental stages.

    abstract::EDL muscles from normal and dystrophic (dy2j) mice of various ages were examined. Muscles were divided into three groups according to age: 7 to 14 days postnatal, 16 to 21 days postnatal, and 6 months old, to assess age and/or phenotype related differences in the muscle response to caffeine or high K+. The response of...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880160108

    authors: Dangain J,Neering IR

    更新日期:1993-01-01 00:00:00

  • Polymyositis--an immunofluorescence study on the distribution of collagen types.

    abstract::Type-specific antibodies to the polymorphic types of collagen have been used to study their distribution in polymyositis. Dramatic increases were observed in the staining with antibodies to Type III collagen and, to a lesser extent, with antibodies to Types I, IV, and V. The changes in capillary and endomysial basemen...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880030605

    authors: Duance VC,Black CM,Dubowitz V,Hughes GR,Bailey AJ

    更新日期:1980-11-01 00:00:00

  • Quantitative neuromuscular ultrasound in intensive care unit-acquired weakness: A systematic review.

    abstract::Intensive care unit-acquired weakness (ICU-AW) causes significant morbidity and impairment in critically ill patients. Recent advances in neuromuscular ultrasound (NMUS) allow evaluation of neuromuscular pathology early in critical illness. Here we review application of ultrasound in ICU-AW. MEDLINE-indexed articles w...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,评审

    doi:10.1002/mus.24728

    authors: Bunnell A,Ney J,Gellhorn A,Hough CL

    更新日期:2015-11-01 00:00:00

  • L1 radiculopathy mimicking meralgia paresthetica: a case report.

    abstract::L1 radiculopathy is very rare and difficult to diagnose with needle electromyography. A patient presented with pain and hypesthesia on the anterolateral aspect of the left thigh. Nerve conduction studies and needle electromyography were normal, except for the quadratus lumborum and iliopsoas muscles, which showed abno...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21601

    authors: Yang SN,Kim DH

    更新日期:2010-04-01 00:00:00

  • Administration of insulin-like growth factor-I improves fatigue resistance of skeletal muscles from dystrophic mdx mice.

    abstract::Muscle fatigue occurs in many neuromuscular diseases, including the muscular dystrophies, and it contributes to a loss of functional capacity and reduced quality of life for affected patients. An improvement in fatigue resistance has been observed in diaphragm muscles of mdx mice following insulin-like growth factor-I...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.20082

    authors: Gregorevic P,Plant DR,Lynch GS

    更新日期:2004-09-01 00:00:00

  • F-wave latencies in patients with diabetes mellitus.

    abstract:INTRODUCTION:To evaluate the sensitivity of electrophysiologic assessments, we compared F-waves and motor and sensory nerve conduction studies (MNCS and SNCS) in patients with diabetes mellitus (DM). METHODS:We tested median, ulnar, tibial, and fibular nerves in 132 DM patients divided into those with and without clin...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.24127

    authors: Pan H,Jian F,Lin J,Chen N,Zhang C,Zhang Z,Ding Z,Wang Y,Cui L,Kimura J

    更新日期:2014-06-01 00:00:00

  • Growth and denervation response of skeletal muscle fibers of newborn rats.

    abstract::The cross-sectional area of the fibers of hindlimb muscles of rats increased 10-40 times during the first 6 weeks after birth. Denervation at birth stopped the growth of the muscle fibers. The number of satellite cells decreased, and eventually all fibers vanished. Reinnervation, if any, was poor. Partial denervation ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880130509

    authors: Schmalbruch H

    更新日期:1990-05-01 00:00:00

  • Multiple forms of anti-acetylcholine receptor antibody in myasthenia gravis.

    abstract::Sera of patients with myasthenia gravis (MG) contain anti-acetylcholine receptor (AChR) IgG antibodies (Ab) which have different antigenic specificities. Three Ab types were detected: (1) MG-I, which forms immune complexes with AChR; (2) MG-C, which decreases binding of AChR to concanavalin A; and MG-B, which blocks a...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880040105

    authors: Mittag T,Massa T,Kornfeld P,Papatestas A,Bender A,Genkins G

    更新日期:1981-01-01 00:00:00

  • Benefits of interval-training on fatigue and functional capacities in Charcot-Marie-Tooth disease.

    abstract::Exercise intolerance and undue fatigue are common complaints in patients with Charcot-Marie-Tooth (CMT) disease. Reduced physical ability is due directly to the disease, but it is also due to physical deconditioning. The aim of this study was to test whether 24 weeks of interval-training exercise (ITE) cycling can sig...

    journal_title:Muscle & nerve

    pub_type: 临床试验,杂志文章

    doi:10.1002/mus.20959

    authors: El Mhandi L,Millet GY,Calmels P,Richard A,Oullion R,Gautheron V,Féasson L

    更新日期:2008-05-01 00:00:00

  • The spread of transgene expression at the site of gene construct injection.

    abstract::Seven 2-day-old golden retriever pups were given focal intramuscular injections of a first generation adenovirus-dystrophin minigene construct and adenovirus-beta-galactosidase construct as a 2:1 mixture into the left anterior tibial muscle. The spread of transgene expression within the anterior tibial muscle was comp...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.1031

    authors: O'Hara AJ,Howell JM,Taplin RH,Fletcher S,Lloyd F,Kakulas B,Lochmüller H,Karpati G

    更新日期:2001-04-01 00:00:00

  • Function of death-associated protein 1 in proliferation, differentiation, and apoptosis of chicken satellite cells.

    abstract:INTRODUCTION:Muscle growth and regeneration are processes closely associated with proliferation, differentiation, and apoptosis of muscle cells. Death-associated protein 1 (DAP1) has been identified as a negative regulator of autophagy. Little is known about the function of DAP1 in the regulation of myogenesis and sate...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.23832

    authors: Shin J,McFarland DC,Strasburg GM,Velleman SG

    更新日期:2013-11-01 00:00:00

  • An anatomic study of the Martin-Gruber anastomosis: electrodiagnostic implications.

    abstract::This study aimed to clarify the morphologic variations of the Martin-Gruber anastomosis (MGA) by tracing the anastomotic fascicles. We used 102 upper limbs, and MGA was found in 39.2%. Among 12 instances of MGA between the branches innervating the flexor digitorum profundus muscle, eight anastomotic branches solely in...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.20141

    authors: Lee KS,Oh CS,Chung IH,Sunwoo IN

    更新日期:2005-01-01 00:00:00

  • Neural hyperexcitability in hyperkalemic periodic paralysis.

    abstract::An electrophysiologic study of peripheral nerve excitability was performed in patients with hyperkalemic periodic paralysis (HPP) and in normal controls. It was found that a marked degree of neural hyperexcitability existed in all patients with HPP who showed cold sensitivity. The results suggest involvement of the ne...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880020402

    authors: Segura RP,Petajan JH

    更新日期:1979-07-01 00:00:00

  • Quantitative evaluation of hand motor function using a gyrosensor in mild and moderate carpal tunnel syndrome.

    abstract:INTRODUCTION:The objective of this study was to determine whether patients with carpal tunnel syndrome (CTS) manifest changes in early-stage motor function and to investigate the utility of a gyrosensor for quantitative evaluation of motor function. METHODS:Angular velocity signal was measured during finger tapping in...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.26424

    authors: Seok HY,Kim JW,Kim YH,Park MH,Kwon DY

    更新日期:2019-04-01 00:00:00

  • Peripheral axon caliber and conduction velocity are decreased after burn injury in mice.

    abstract::Peripheral neuropathies are reported to arise as a result of the systemic inflammatory response produced by a full-thickness cutaneous burn injury. This study was designed to characterize the magnitude and time course of functional and morphological changes in peripheral axons that arise after a full-thickness dermal ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.20306

    authors: Higashimori H,Whetzel TP,Mahmood T,Carlsen RC

    更新日期:2005-05-01 00:00:00

  • Masseter reflex latencies and amplitudes are not influenced by supratentorial and cerebellar lesions.

    abstract::The aim of this study was to investigate possible influences of suprasegmental lesions on the masseter reflex. The masseter reflex was elicited in 54 patients with supratentorial (37 patients) or cerebellar (17 patients) lesions 3-11 days after the acute onset of clinical disease. Patients showing lesions within the p...

    journal_title:Muscle & nerve

    pub_type: 临床试验,杂志文章

    doi:10.1002/(sici)1097-4598(200001)23:1<86::aid-mus11>

    authors: Hopf HC,Hinrichs C,Stoeter P,Urban PP,Marx J,Thömke F

    更新日期:2000-01-01 00:00:00

  • Different contribution of joint and cutaneous inputs to early scalp somatosensory evoked potentials.

    abstract::To elucidate whether the frontal components of scalp somatosensory evoked potentials (SEPs) depend on the type of peripheral input, we compared scalp SEPs in response to electrical stimuli applied to: (i) the proximal phalanx of the thumb, involving both deep and cutaneous afferents; and (ii) the distal phalanx of the...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/(sici)1097-4598(199907)22:7<910::aid-mus15

    authors: Restuccia D,Valeriani M,Barba C,Le Pera D,Tonali P,Mauguière F

    更新日期:1999-07-01 00:00:00

  • Expression of genes related to myostatin signaling during rat skeletal muscle longitudinal growth.

    abstract::In this study we investigated the gene expression of proteins related to myostatin (MSTN) signaling during skeletal muscle longitudinal growth. To promote muscle growth, Wistar male rats were submitted to a stretching protocol for different durations (12, 24, 48, and 96 hours). Following this protocol, soleus weight a...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21426

    authors: Aoki MS,Soares AG,Miyabara EH,Baptista IL,Moriscot AS

    更新日期:2009-12-01 00:00:00

  • AANEM - IFCN Glossary of Terms in Neuromuscular Electrodiagnostic Medicine and Ultrasound.

    abstract::Modern neuromuscular electrodiagnosis (EDX) and neuromuscular ultrasound (NMUS) require a universal language for effective communication in clinical practice and research and, in particular, for teaching young colleagues. Therefore, the AANEM and the IFCN have decided to publish a joint glossary as they feel the need ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,评审

    doi:10.1002/mus.26868

    authors: Dengler R,de Carvalho M,Shahrizaila N,Nodera H,Vucic S,Grimm A,Padua L,Schreiber S,Kneiser MK,Hobson-Webb LD,Boon AJ,Smith BE,Litchy WJ,Li Y,Lenihan M,Thompson VB,Stalberg E,Sanders DB,Kincaid JC

    更新日期:2020-07-01 00:00:00

  • Nerve expansion in nerve regeneration: effect of time on induction of ornithine decarboxylase and Schwann cell proliferation.

    abstract::We studied the effect of initiation time of nerve expansion after nerve transection on the induction of ODC activity and Schwann cell proliferation in nerve tissue under Wallerian degeneration. The levels of ODC activity and Schwann cell proliferation decreased as the initiation time of nerve expansion was delayed aft...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/(sici)1097-4598(199710)20:10<1314::aid-mus

    authors: Ohkaya S,Hibasami H,Hirata H,Sasaki H,Morita A,Matsumoto M,Uchida A,Nakashima K

    更新日期:1997-10-01 00:00:00

  • Differential response of heat shock proteins to hindlimb unloading and reloading in the soleus.

    abstract::Hindlimb unloading (HU) results in oxidative stress, skeletal muscle atrophy, and increased damage upon reloading. Heat shock proteins (HSPs) protect against oxidative stress. However, it is unknown whether HSPs are depressed with long-term unloading (28 days) or reloading. We tested the hypotheses that long-term HU w...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.20454

    authors: Lawler JM,Song W,Kwak HB

    更新日期:2006-02-01 00:00:00

  • Skeletal muscle involvement in human immunodeficiency virus (HIV)-infected patients in the era of highly active antiretroviral therapy (HAART).

    abstract::Skeletal muscle involvement can occur at all stages of human immunodeficiency virus (HIV) infection, and may represent the first manifestation of the disease. Myopathies in HIV-infected patients are classified as follows: (1) HIV-associated myopathies and related conditions, including HIV polymyositis, inclusion-body ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,评审

    doi:10.1002/mus.20338

    authors: Authier FJ,Chariot P,Gherardi RK

    更新日期:2005-09-01 00:00:00

  • Congenital myasthenic syndromes: progress over the past decade.

    abstract::Congenital myasthenic syndromes (CMS) stem from defects in presynaptic, synaptic basal lamina, and postsynaptic proteins. The presynaptic CMS are associated with defects that curtail the evoked release of acetylcholine (ACh) quanta or ACh resynthesis. Defects in ACh resynthesis have now been traced to mutations in cho...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,评审

    doi:10.1002/mus.10269

    authors: Engel AG,Ohno K,Sine SM

    更新日期:2003-01-01 00:00:00

  • Congenital canine myasthenia gravis: II. Acetylcholine receptor metabolism.

    abstract::Acetylcholine receptor (AChR) metabolism was studied in muscle from juvenile and adult dogs with congenital myasthenia gravis (CMG) and their unaffected littermates. Although the amount of AChR in the junctional region of innervated CMG muscle fibers was 25% of normal, or less, denervation of CMG fibers resulted in th...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880070905

    authors: Oda K,Lennon VA,Lambert EH,Palmer AC

    更新日期:1984-11-01 00:00:00

  • Lambert-Eaton myasthenic syndrome with ophthalmoparesis and pseudoblepharospasm.

    abstract::We report a patient initially diagnosed as having ocular myasthenia gravis who showed progressive ophthalmoparesis and pseudoblepharospasm together with positive acetylcholine receptor antibodies. Repeated evaluation with high-frequency repetitive stimulation revealed an incremental response and elevated titers of ant...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/(sici)1097-4598(199912)22:12<1727::aid-mus

    authors: Kanzato N,Motomura M,Suehara M,Arimura K

    更新日期:1999-12-01 00:00:00

  • Sural nerve biopsy studies in Leigh's subacute necrotizing encephalomyelopathy.

    abstract::Peripheral neuropathy marked by reduced nerve conduction velocities was found in four unrelated children, between the ages of 15 months and 9 years, whose autopsies revealed Leigh's subacute necrotizing encephalomyelopathy. Sural nerve biopsies disclosed primary demyelination and remyelination, as well as loss of myel...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880090210

    authors: Goebel HH,Bardosi A,Friede RL,Kohlschütter A,Albani M,Siemes H

    更新日期:1986-02-01 00:00:00

  • Quantitative muscle ultrasound in upper extremity mononeuropathies.

    abstract:INTRODUCTION:We assessed the potential use of quantitative ultrasound (QUS) in the evaluation hand muscles affected by upper extremity mononeuropathies. METHODS:The gray scale levels (GSLs) of abductor pollicis brevis (APB), abductor digiti minimi (ADM), and first dorsal interosseous (FDI) of 30 healthy and 30 upper e...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.26481

    authors: Wang Y,Gutierrez H,Martucci M,Poussaint A,Qi K,Sanchez B,Rutkove SB

    更新日期:2019-07-01 00:00:00